Article
Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).
Human molecular genetics - 1 Nov 1994
Lee S T, Nicholls R D, Schnur R E, Guida L C, Lu-Kuo J, Spinner N B, Zackai E H, Spritz R A
Abstract excerpt
Type II (tyrosinase-positive) oculocutaneous albinism (OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in the skin, hair, and eyes. OCA2, which we have shown results from mutations of the P gene in Caucasians, is the most prevalent type of oculocutaneous albinism in African and African-American patients with OCA. We have identified abnormalities of the P gene in...
Topics
- Adolescent
- Adult
- Albinism, Oculocutaneous
- Amino Acid Sequence
- Base Sequence
- Black People
- Child
- Child, Preschool
- Female
- Humans
- Male